1. Human Genetic Disorders

2. Tay-Sachs Disease Inheritance Pattern: Autosomal Recessive Disorder
Symptoms: Patients lack an enzyme which breaks down lipids in the brain and nervous system. The more lipid build- up, the more damage to nerve cells which prevents the body from sustaining life.
Population: Central and Eastern European, specifically Ashkenazi Jews and French Canadians
Treatments: No cure – use the following to alleviate symptoms: feeding tubes, medication, physical therapy, and respiratory therapy

3. Symptoms: Blood cannot clot – excessive bleeding.
Hemophilia
Inheritance Pattern: Sex-linked recessive disorder – mostly males because they inherit one X from mom – usually the affected trait.
Symptoms: Blood cannot clot – excessive bleeding.
Population: Europeans
Treatments: No cure – medication to help clot, transfusions to help clot

4. Huntington’s Disease Inheritance Pattern: Autosomal Dominant Disorder
Symptoms: irreversible and fatal breakdown of the nervous system. Slow movement, muscle problems, difficulty speaking and swallowing, etc. Symptoms don’t present until about age 35 or older.
Population: Europeans
Treatments: No cure – medication can lessen the symptoms.
Note: The sooner you are tested, the quicker medication can begin and the less severe of symptoms.

5. Inheritance Pattern: Codominant
Sickle Cell Anemia
Inheritance Pattern: Codominant
Symptoms: faulty hemoglobin is produced to change the shape of the blood cells. One allele (a heterozygous patient) can prevent against malaria, but 2 infected alleles (a homozygous dominant patient) can result in pain, anemia, organ damage, and can lead to death.
Population: African and Caribbean population
Treatments: No cure - Blood transfusions, pain medication, etc.

6. Inheritance Pattern: Autosomal Recessive Disorder
Cystic Fibrosis (CF)
Inheritance Pattern: Autosomal Recessive Disorder
Symptoms: inherit a defective channel protein in the plasma membrane. This causes mucus build- up in the cells of the lungs and other organs.
Population: Mostly Caucasian Americans
Treatments: Physical Therapy, Antibiotics, Breathing Machines, Vibrating Chest Vests, and Gene Therapy.

7. Phenylketonuria (PKU)
Inheritance Pattern: Autosomal Recessive
Symptoms: Patients lack an enzyme which breaks down an amino acid called Phenylalanine. The more of this amino acid, the more damage to the brain and nervous system. This can cause mental retardation at a young age if not treated immediately.
Population: Norwegians, Swedish, Irish
Treatments: Medication, Special diet with low phenylalanine: Diet incudes avoiding: fish, poultry, red meat, dairy, etc.

8. Down Syndrome Inheritance Pattern: Nondisjunction
Symptoms: Can have abnormal health and digestive defects, increase chance of developing other medical conditions, slow speech and language development, and a decline in cognition.
Population: Anyone – 1 in 800 newborns
Treatments: No cure – therapy and education to address language motor skills